Mitochondrial disorders
Gene: AARS2Comment on mode of inheritance: Source: OMIM and the publications (compound hets or homozygous).Created: 10 Feb 2016, 10:24 a.m.
Comment on list classification: Reviewer suggests this should be promoted from red to green, and there are multiple cases reported in PMID: 25058219, and one in PMID: 25058219.Created: 10 Feb 2016, 10:23 a.m.
Victorian Clinical Genetics Services was added to AARS2. Panel: Mitochondrial disorders
Publications for AARS2 were set to PMID: 21549344; 25058219
Phenotypes for AARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for AARS2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for AARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 8, 614096
Publications for AARS2 were set to PMID: 21549344; 25058219
Mode of inheritance for AARS2 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for AARS2 were set to PMID: 21549344
AARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
AARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
AARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen